Literature DB >> 24080727

How to correct chromosomal trisomy.

Christine M Disteche1.   

Abstract

Trisomy 21 in human causes Down syndrome, a common chromosome disorder with devastating phenotypes ranging from early death in utero to intellectual disability together with an array of physical anomalies and late-onset diseases. In a recent study published in Nature, Jeanne Lawrence and her colleagues restored normal gene expression in trisomy 21 cells by silencing the extra chromosome using XIST, the non-coding RNA that normally silences one X chromosome in females; this improved growth and differentiation of neural cells, which offers hope that some deleterious effects of the trisomy could be reversed to improve this incurable disease.

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Year:  2013        PMID: 24080727      PMCID: PMC3847571          DOI: 10.1038/cr.2013.135

Source DB:  PubMed          Journal:  Cell Res        ISSN: 1001-0602            Impact factor:   25.617


  12 in total

1.  Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations.

Authors:  Andrew J Sharp; Hugh T Spotswood; David O Robinson; Bryan M Turner; Patricia A Jacobs
Journal:  Hum Mol Genet       Date:  2002-12-01       Impact factor: 6.150

2.  Hematopoietic precursor cells transiently reestablish permissiveness for X inactivation.

Authors:  Fabio Savarese; Katja Flahndorfer; Rudolf Jaenisch; Meinrad Busslinger; Anton Wutz
Journal:  Mol Cell Biol       Date:  2006-10       Impact factor: 4.272

Review 3.  A year of unprecedented progress in Down syndrome basic research.

Authors:  Roger H Reeves; Craig C Garner
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2007

Review 4.  Genes that escape from X inactivation.

Authors:  Joel B Berletch; Fan Yang; Jun Xu; Laura Carrel; Christine M Disteche
Journal:  Hum Genet       Date:  2011-05-26       Impact factor: 4.132

5.  Long-range cis effects of ectopic X-inactivation centres on a mouse autosome.

Authors:  J T Lee; R Jaenisch
Journal:  Nature       Date:  1997-03-20       Impact factor: 49.962

6.  Derivation of euploid human embryonic stem cells from aneuploid embryos.

Authors:  Neta Lavon; Kavita Narwani; Tamar Golan-Lev; Nicole Buehler; David Hill; Nissim Benvenisty
Journal:  Stem Cells       Date:  2008-05-01       Impact factor: 6.277

7.  Expression in aneuploid Drosophila S2 cells.

Authors:  Yu Zhang; John H Malone; Sara K Powell; Vipul Periwal; Eric Spana; David M Macalpine; Brian Oliver
Journal:  PLoS Biol       Date:  2010-02-23       Impact factor: 8.029

8.  DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.

Authors:  Claudia Canzonetta; Claire Mulligan; Samuel Deutsch; Sandra Ruf; Aideen O'Doherty; Robert Lyle; Christelle Borel; Nathalie Lin-Marq; Frederic Delom; Jürgen Groet; Felix Schnappauf; Serena De Vita; Sharon Averill; John V Priestley; Joanne E Martin; Janet Shipley; Gareth Denyer; Charles J Epstein; Cristina Fillat; Xavier Estivill; Victor L J Tybulewicz; Elizabeth M C Fisher; Stylianos E Antonarakis; Dean Nizetic
Journal:  Am J Hum Genet       Date:  2008-09-04       Impact factor: 11.025

9.  Trisomy correction in Down syndrome induced pluripotent stem cells.

Authors:  Li B Li; Kai-Hsin Chang; Pei-Rong Wang; Roli K Hirata; Thalia Papayannopoulou; David W Russell
Journal:  Cell Stem Cell       Date:  2012-10-18       Impact factor: 24.633

10.  Translating dosage compensation to trisomy 21.

Authors:  Jun Jiang; Yuanchun Jing; Gregory J Cost; Jen-Chieh Chiang; Heather J Kolpa; Allison M Cotton; Dawn M Carone; Benjamin R Carone; David A Shivak; Dmitry Y Guschin; Jocelynn R Pearl; Edward J Rebar; Meg Byron; Philip D Gregory; Carolyn J Brown; Fyodor D Urnov; Lisa L Hall; Jeanne B Lawrence
Journal:  Nature       Date:  2013-07-17       Impact factor: 49.962

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  2 in total

Review 1.  Non-embryo-destructive Extraction of Pluripotent Embryonic Stem Cells: Implications for Regenerative Medicine and Reproductive Medicine.

Authors:  R Dittrich; M W Beckmann; W Würfel
Journal:  Geburtshilfe Frauenheilkd       Date:  2015-12       Impact factor: 2.915

2.  Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21.

Authors:  Marija Volk; Aleš Maver; Alenka Hodžić; Luca Lovrečić; Borut Peterlin
Journal:  OMICS       Date:  2017-10
  2 in total

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